Comparison of Outcome in Patients With Familial Versus Spontaneous Atrial Septal Defect.

Patients with atrial septal defects (ASDs) have increased mortality and morbidity. This can only partly be explained by hemodynamic changes caused by the ASD, suggesting additional underlying causes. Patients with an ASD have an increased burden of pathogenic gene variants in ASD-related genes, indicating genetics as an important factor in etiology. Inheritance of genetic variants with high impact can cause ASD in relatives (familial ASD). This study aimed to investigate whether lifelong outcomes were different in patients with familial ASD compared with patients with sporadic ASD. We used health registries and a nationwide cohort of 2,151 patients with ASD to compare the incidences of atrial fibrillation or flutter (together abbreviated as AF), heart failure, and mortality between patients with familial and sporadic ASD using Cox proportional hazard ratio and Fine and Gray analysis. Patients with familial ASD experienced AF and heart failure earlier in life than patients with sporadic ASD, with hazard ratios of 1.6 and 1.7, respectively. Subdistribution hazard ratios showed an increased risk of AF and heart failure in patients with familial ASD compared with patients with sporadic ASDs (2.3 and 3.1, respectively). Our results suggest that genetic variants with high impact may influence the outcomes of patients with ASD. In conclusion, patients with familial ASD have an increased risk and an earlier onset of AF and heart failure compared with patients with sporadic ASD, hence clinical awareness of arrhythmias and heart failure in patients with familial ASD may lead to timely treatment.

Partial Anomalous Pulmonary Venous Connection: Forty-Six Years of Follow-Up.

BACKGROUND: Surgical repair of partial anomalous pulmonary venous connection (PAPVC) may disturb the electrical conduction in the atria. This study documents long-term outcomes, including the late occurrence of atrial tachyarrhythmia and bradyarrhythmia. METHODS: This retrospective study covers all PAPVC operations at Aarhus University Hospital between 1970 and 2010. Outcome measures were arrhythmias, sinus node disease, pacemaker implantation, pathway stenosis (pulmonary vein(s), intra-atrial pathway, and/or superior vena cava), and mortality. Data were collected from databases, surgical protocols, and hospital records until May 2018. RESULTS: A total of 83 patients were included with a postoperative follow-up period up to 46 years. Average age at follow-up was 43 ± 21 years. During follow-up, new-onset atrial fibrillation or atrial flutter appeared in four patients (5%). Sinus node disease was present in nine patients (11%). A permanent pacemaker was implanted in seven patients (8%) at an average of 12.7 years after surgery. Pulmonary venous and/or superior vena cava obstruction was seen in five patients (6%). Stenosis was most prevalent in the two-patch technique, and arrhythmia was most prevalent in the single-patch technique. Sixty-seven (81%) of 83 patients had neither bradyarrhythmias nor tachyarrhythmias or pacemaker need. CONCLUSIONS: This study contributes important long-term data concerning the course of patients who have undergone repair of PAPVC. It confirms that PAPVC can be operated with low postoperative morbidity. However, late-onset stenosis, bradyarrhythmias and tachyarrhythmias, and need for pacemaker call for continued follow-up.